Transgenomic Inc. has launched its ICE COLD-PCR mutation detection technology, a breakthrough technology enabling unmatched sensitivity and complete DNA mutation detection using the standard sequencing equipment already installed in laboratories around the world. The launch coincided with the 2012 annual meeting of the American Society of Clinical Oncology.

ICE COLD-PCR is capable of identifying mutation frequencies as low or lower than 0.01% which surpasses the limits of currently available mutation detection tests. This extremely high sensitivity enables detection of mutations from virtually any sample type including tissue biopsies, blood, and circulating tumor cells (CTCs). Mutation profiling from blood and CTCs may benefit cancer patients because it avoids the risks of additional surgical procedures while providing an up-to-date picture of any additional mutations the cancer may have acquired throughout treatment.

An ICE COLD-PCR kit for enrichment of KRAS mutations is now available worldwide to molecular diagnostic laboratories for use with standard DNA sequencing equipment. Transgenomic plans to expand the ICE COLD-PCR testing platform to include other therapeutically relevant mutations including BRAF, EGFR, and PIK3CA.

“The broad use of ICE COLD-PCR has the potential to revolutionize cancer screening, diagnosis, monitoring, and therapy selection” said Craig Tuttle, Chief Executive Officer of Transgenomic. “It offers us the ability to accurately perform safer, less invasive, and more frequent assessments of a cancer and its mutations, all through a simple blood draw. Ultimately, the goal is to provide real-time monitoring of cancer progression, resistance mutations and response to therapy. With the proliferation of targeted anticancer drugs now available or in clinical trials, ICE COLD-PCR will help determine the right path for each patient at every step of his or her treatment, making precision medicine even more precise.”

Mr. Tuttle added: “ICE COLD-PCR provides extreme sensitivity and coverage to ensure that mutations are not missed, both are needed for reliable mutation profiling from blood, CTCs, and small sample sizes. Because it is used with the sequencing equipment already installed in labs around the world, we expect broad and sustained adoption of this technology, with kit sales beginning this year. Each of the markets addressed by ICE COLD-PCR – diagnosis, monitoring, and disease recurrence – is substantial, providing a significant value-creation opportunity for Transgenomic.”

ICE COLD-PCR technology was developed in collaboration with the Dana-Farber Cancer Institute and is supported by multiple validation studies confirming reproducible mutation detection at very high sensitivity – up to 1,000 times more sensitive than traditional PCR techniques. The technology is also being evaluated in an ongoing study with The University of Texas MD Anderson Cancer Center to analyze DNA isolated from CTCs. Request Info